HIGM2
MCID: IMM104
MIFTS: 47

Immunodeficiency with Hyper-Igm, Type 2 (HIGM2)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency with Hyper-Igm, Type 2

MalaCards integrated aliases for Immunodeficiency with Hyper-Igm, Type 2:

Name: Immunodeficiency with Hyper-Igm, Type 2 58 13
Higm2 58 12 54 60 76 56
Immunodeficiency with Hyper Igm Type 2 54 30 6
Activation-Induced Cytidine Deaminase Deficiency 12 60
Immunodeficiency with Hyper-Igm Type 2 12 15
Hyper-Igm Syndrome Type 2 12 60
Hyper-Igm Syndrome 2 58 76
Aid Deficiency 12 60
Hyper-Igm Immunodeficiency Syndrome, Type 2 74
Immunodeficiency, with Hyper Igm, Type 2 41
Activation-Induced Cytidine Deaminase 13
Immunodeficiency with Hyper-Igm 2 76
Hyper-Igm Immunodeficiency Type 2 76
Hyper Igm Syndrome 2 54

Characteristics:

OMIM:

58
Miscellaneous:
recurrent bacterial infections
no opportunistic infections

Inheritance:
autosomal recessive


HPO:

33
immunodeficiency with hyper-igm, type 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0060758
OMIM 58 605258
MeSH 45 D053306
ICD10 34 D80.5
ICD10 via Orphanet 35 D80.5
UMLS via Orphanet 75 C1720956
Orphanet 60 ORPHA101089
MedGen 43 C1720956
UMLS 74 C1720956

Summaries for Immunodeficiency with Hyper-Igm, Type 2

OMIM : 58 Hyper-IgM syndrome type 2 (HIGM2) is a rare immunodeficiency characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections. For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230). (605258)

MalaCards based summary : Immunodeficiency with Hyper-Igm, Type 2, also known as higm2, is related to b-cell lymphomas and leukemia, chronic lymphocytic. An important gene associated with Immunodeficiency with Hyper-Igm, Type 2 is AICDA (Activation Induced Cytidine Deaminase), and among its related pathways/superpathways are PAK Pathway and Allograft rejection. Affiliated tissues include lymph node and b cells, and related phenotypes are immunodeficiency and lymphadenopathy

Disease Ontology : 12 A hyperimmunoglobulin syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has material basis in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13.

UniProtKB/Swiss-Prot : 76 Immunodeficiency with hyper-IgM 2: A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections.

Related Diseases for Immunodeficiency with Hyper-Igm, Type 2

Diseases related to Immunodeficiency with Hyper-Igm, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 b-cell lymphomas 30.7 AICDA BCL6 CD40 TNFSF13B
2 leukemia, chronic lymphocytic 30.6 AICDA BCL6 CD40 CD40LG TNFSF13B
3 light fixation seizure syndrome 30.6 CD40 CD40LG
4 immunodeficiency with hyper-igm, type 1 30.4 AICDA CD40 CD40LG UNG
5 common variable immunodeficiency 30.1 AICDA CD40 CD40LG TNFSF13B
6 autoimmune disease 30.0 CD40 CD40LG MOG TNFSF13B
7 burkitt lymphoma 30.0 AICDA BCL6 CD40 CD40LG TNFSF13B
8 lymphoma 10.7
9 leukemia 10.7
10 lymphocytic leukemia 10.6
11 leukemia, chronic lymphocytic 2 10.5
12 leukemia, b-cell, chronic 10.5
13 leukemia, acute lymphoblastic 10.4
14 follicular lymphoma 10.4
15 oral squamous cell carcinoma 10.4
16 squamous cell carcinoma 10.4
17 gastric cancer 10.3
18 diffuse large b-cell lymphoma 10.3
19 hepatitis 10.3
20 hepatitis b 10.3
21 colitis 10.3
22 immunodeficiency with hyper-igm, type 3 10.2 AICDA CD40 CD40LG
23 congenital rubella 10.2 CD40LG UNG
24 lymphoma, mucosa-associated lymphoid type 10.2
25 rheumatoid arthritis 10.2
26 lymphoma, hodgkin, classic 10.2
27 asthma 10.2
28 arthritis 10.2
29 b cell deficiency 10.2 AICDA CD40 CD40LG
30 transient hypogammaglobulinemia of infancy 10.2 CD40 CD40LG UNG
31 sjogren-larsson syndrome 10.1
32 distal trisomy 3p 10.1
33 cd40 ligand deficiency 10.1 AICDA CD40 CD40LG UNG
34 spondyloarthropathy 1 10.1
35 breast cancer 10.1
36 sjogren syndrome 10.1
37 aging 10.1
38 helicobacter pylori infection 10.1
39 cholangiocarcinoma 10.1
40 autoimmune lymphoproliferative syndrome, type v 10.1
41 acute lymphocytic leukemia 10.1
42 liver disease 10.1
43 mantle cell lymphoma 10.1
44 splenic marginal zone lymphoma 10.1
45 ulcerative colitis 10.1
46 primary mediastinal b-cell lymphoma 10.1
47 igg4-related disease 10.1
48 graves' disease 10.1
49 lymphadenitis 10.1
50 hairy cell leukemia 10.1

Graphical network of the top 20 diseases related to Immunodeficiency with Hyper-Igm, Type 2:



Diseases related to Immunodeficiency with Hyper-Igm, Type 2

Symptoms & Phenotypes for Immunodeficiency with Hyper-Igm, Type 2

Human phenotypes related to Immunodeficiency with Hyper-Igm, Type 2:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 33 HP:0002721
2 lymphadenopathy 33 HP:0002716
3 recurrent bacterial infections 33 HP:0002718
4 recurrent infection of the gastrointestinal tract 33 HP:0004798
5 recurrent upper and lower respiratory tract infections 33 HP:0200117
6 decreased circulating iga level 33 HP:0002720
7 decreased circulating igg level 33 HP:0004315
8 impaired ig class switch recombination 33 HP:0002959

Symptoms via clinical synopsis from OMIM:

58
Respiratory:
recurrent upper and lower respiratory tract infections

Immunology:
low-absent igg, iga
normal-elevated igm
impaired ig class switch recombination (csr)
lymph node hyperplasia
giant germinal centers in lymph nodes
more
Abdomen Gastrointestinal:
recurrent gastrointestinal infections

Clinical features from OMIM:

605258

GenomeRNAi Phenotypes related to Immunodeficiency with Hyper-Igm, Type 2 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 AICDA APOBEC1 BCL6 BRD4 CD2 CD276
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.43 BRD4 CD40 KMT5B KMT5C TP53BP1 UNG

MGI Mouse Phenotypes related to Immunodeficiency with Hyper-Igm, Type 2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.97 AICDA BCL6 CD276 CD40 CD40LG IKBKG
2 cellular MP:0005384 9.96 AICDA BCL6 CD40LG IKBKG KMT5B KMT5C
3 immune system MP:0005387 9.77 AICDA BCL6 CD276 CD40 CD40LG IKBKG
4 normal MP:0002873 9.23 AICDA APOBEC1 BCL6 CD2 CD40 IKBKG

Drugs & Therapeutics for Immunodeficiency with Hyper-Igm, Type 2

Search Clinical Trials , NIH Clinical Center for Immunodeficiency with Hyper-Igm, Type 2

Genetic Tests for Immunodeficiency with Hyper-Igm, Type 2

Genetic tests related to Immunodeficiency with Hyper-Igm, Type 2:

# Genetic test Affiliating Genes
1 Immunodeficiency with Hyper Igm Type 2 30 AICDA

Anatomical Context for Immunodeficiency with Hyper-Igm, Type 2

MalaCards organs/tissues related to Immunodeficiency with Hyper-Igm, Type 2:

42
Lymph Node, B Cells

Publications for Immunodeficiency with Hyper-Igm, Type 2

Articles related to Immunodeficiency with Hyper-Igm, Type 2:

# Title Authors Year
1
Coexistence of Two Rare Autosomal Recessive Disorders: Activation-Induced Cytidine Deaminase Deficiency and Sjogren-Larsson Syndrome. ( 28471629 )
2016
2
Activation-induced cytidine deaminase deficiency causes organ-specific autoimmune disease. ( 18716662 )
2008
3
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. ( 14962793 )
2004
4
The block in immunoglobulin class switch recombination caused by activation-induced cytidine deaminase deficiency occurs prior to the generation of DNA double strand breaks in switch mu region. ( 12928399 )
2003

Variations for Immunodeficiency with Hyper-Igm, Type 2

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency with Hyper-Igm, Type 2:

76
# Symbol AA change Variation ID SNP ID
1 AICDA p.Arg24Trp VAR_013774 rs104894324
2 AICDA p.Trp80Arg VAR_013775 rs104894320
3 AICDA p.Leu106Pro VAR_013776 rs104894321
4 AICDA p.Met139Val VAR_013777 rs104894322
5 AICDA p.Phe151Ser VAR_013778 rs104894327
6 AICDA p.Phe15Leu VAR_077563
7 AICDA p.Tyr31His VAR_077564
8 AICDA p.His130Pro VAR_077567

ClinVar genetic disease variations for Immunodeficiency with Hyper-Igm, Type 2:

6 (show top 50) (show all 53)
# Gene Variation Type Significance SNP ID Assembly Location
1 AICDA NM_020661.3(AICDA): c.70C> T (p.Arg24Trp) single nucleotide variant Pathogenic rs104894324 GRCh37 Chromosome 12, 8759547: 8759547
2 AICDA NM_020661.3(AICDA): c.70C> T (p.Arg24Trp) single nucleotide variant Pathogenic rs104894324 GRCh38 Chromosome 12, 8606951: 8606951
3 AICDA NM_020661.3(AICDA): c.203G> A (p.Trp68Ter) single nucleotide variant Pathogenic rs104894325 GRCh37 Chromosome 12, 8758035: 8758035
4 AICDA NM_020661.3(AICDA): c.203G> A (p.Trp68Ter) single nucleotide variant Pathogenic rs104894325 GRCh38 Chromosome 12, 8605439: 8605439
5 AICDA NM_020661.3(AICDA): c.238T> C (p.Trp80Arg) single nucleotide variant Pathogenic rs104894320 GRCh37 Chromosome 12, 8758000: 8758000
6 AICDA NM_020661.3(AICDA): c.238T> C (p.Trp80Arg) single nucleotide variant Pathogenic rs104894320 GRCh38 Chromosome 12, 8605404: 8605404
7 AICDA NM_020661.3(AICDA): c.317T> C (p.Leu106Pro) single nucleotide variant Pathogenic rs104894321 GRCh37 Chromosome 12, 8757921: 8757921
8 AICDA NM_020661.3(AICDA): c.317T> C (p.Leu106Pro) single nucleotide variant Pathogenic rs104894321 GRCh38 Chromosome 12, 8605325: 8605325
9 AICDA NM_020661.3(AICDA): c.415A> G (p.Met139Val) single nucleotide variant Pathogenic rs104894322 GRCh37 Chromosome 12, 8757823: 8757823
10 AICDA NM_020661.3(AICDA): c.415A> G (p.Met139Val) single nucleotide variant Pathogenic rs104894322 GRCh38 Chromosome 12, 8605227: 8605227
11 AICDA NM_020661.3(AICDA): c.441C> A (p.Cys147Ter) single nucleotide variant Pathogenic rs104894323 GRCh37 Chromosome 12, 8757505: 8757505
12 AICDA NM_020661.3(AICDA): c.441C> A (p.Cys147Ter) single nucleotide variant Pathogenic rs104894323 GRCh38 Chromosome 12, 8604909: 8604909
13 AICDA NM_020661.3(AICDA): c.452T> C (p.Phe151Ser) single nucleotide variant Pathogenic rs104894327 GRCh37 Chromosome 12, 8757494: 8757494
14 AICDA NM_020661.3(AICDA): c.452T> C (p.Phe151Ser) single nucleotide variant Pathogenic rs104894327 GRCh38 Chromosome 12, 8604898: 8604898
15 AICDA NM_020661.3(AICDA): c.21_39del19 (p.Arg8Asnfs) deletion Pathogenic rs387906328 GRCh37 Chromosome 12, 8759578: 8759596
16 AICDA NM_020661.3(AICDA): c.21_39del19 (p.Arg8Asnfs) deletion Pathogenic rs387906328 GRCh38 Chromosome 12, 8606982: 8607000
17 AICDA NM_020661.3(AICDA): c.176_184delTGCTCTTCC (p.Leu59_Leu62delinsPhe) deletion Pathogenic rs387906329 GRCh37 Chromosome 12, 8758054: 8758062
18 AICDA NM_020661.3(AICDA): c.176_184delTGCTCTTCC (p.Leu59_Leu62delinsPhe) deletion Pathogenic rs387906329 GRCh38 Chromosome 12, 8605458: 8605466
19 AICDA NM_020661.3(AICDA): c.251G> A (p.Trp84Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922703 GRCh37 Chromosome 12, 8757987: 8757987
20 AICDA NM_020661.3(AICDA): c.251G> A (p.Trp84Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922703 GRCh38 Chromosome 12, 8605391: 8605391
21 AICDA NM_020661.3(AICDA): c.374G> A (p.Gly125Glu) single nucleotide variant Likely pathogenic rs193922704 GRCh37 Chromosome 12, 8757864: 8757864
22 AICDA NM_020661.3(AICDA): c.374G> A (p.Gly125Glu) single nucleotide variant Likely pathogenic rs193922704 GRCh38 Chromosome 12, 8605268: 8605268
23 AICDA NM_020661.2(AICDA): c.210A> G (p.Leu70=) single nucleotide variant Benign/Likely benign rs104894984 NCBI36 Chromosome 12, 8649295: 8649295
24 AICDA NM_020661.2(AICDA): c.210A> G (p.Leu70=) single nucleotide variant Benign/Likely benign rs104894984 GRCh37 Chromosome 12, 8758028: 8758028
25 AICDA NM_020661.2(AICDA): c.210A> G (p.Leu70=) single nucleotide variant Benign/Likely benign rs104894984 GRCh38 Chromosome 12, 8605432: 8605432
26 AICDA NM_020661.3(AICDA): c.465C> T (p.His155=) single nucleotide variant Benign rs2028373 GRCh37 Chromosome 12, 8757481: 8757481
27 AICDA NM_020661.3(AICDA): c.465C> T (p.His155=) single nucleotide variant Benign rs2028373 GRCh38 Chromosome 12, 8604885: 8604885
28 AICDA NM_020661.3(AICDA): c.156+16G> A single nucleotide variant Benign rs2518144 GRCh37 Chromosome 12, 8759445: 8759445
29 AICDA NM_020661.3(AICDA): c.156+16G> A single nucleotide variant Benign rs2518144 GRCh38 Chromosome 12, 8606849: 8606849
30 AICDA NM_020661.3(AICDA): c.48A> G (p.Lys16=) single nucleotide variant Conflicting interpretations of pathogenicity rs186739900 GRCh37 Chromosome 12, 8759569: 8759569
31 AICDA NM_020661.3(AICDA): c.48A> G (p.Lys16=) single nucleotide variant Conflicting interpretations of pathogenicity rs186739900 GRCh38 Chromosome 12, 8606973: 8606973
32 AICDA NM_020661.3(AICDA): c.427+4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201180477 GRCh38 Chromosome 12, 8605211: 8605211
33 AICDA NM_020661.3(AICDA): c.427+4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201180477 GRCh37 Chromosome 12, 8757807: 8757807
34 AICDA NM_020661.3(AICDA): c.267C> T (p.Asp89=) single nucleotide variant Benign rs74334270 GRCh38 Chromosome 12, 8605375: 8605375
35 AICDA NM_020661.3(AICDA): c.267C> T (p.Asp89=) single nucleotide variant Benign rs74334270 GRCh37 Chromosome 12, 8757971: 8757971
36 AICDA NM_020661.3(AICDA): c.379C> A (p.Arg127=) single nucleotide variant Likely benign rs141451637 GRCh38 Chromosome 12, 8605263: 8605263
37 AICDA NM_020661.3(AICDA): c.379C> A (p.Arg127=) single nucleotide variant Likely benign rs141451637 GRCh37 Chromosome 12, 8757859: 8757859
38 AICDA NM_020661.3(AICDA): c.284C> T (p.Ala95Val) single nucleotide variant Uncertain significance rs780274954 GRCh38 Chromosome 12, 8605358: 8605358
39 AICDA NM_020661.3(AICDA): c.284C> T (p.Ala95Val) single nucleotide variant Uncertain significance rs780274954 GRCh37 Chromosome 12, 8757954: 8757954
40 AICDA NM_020661.3(AICDA): c.585T> C (p.Thr195=) single nucleotide variant Benign rs78590060 GRCh37 Chromosome 12, 8756892: 8756892
41 AICDA NM_020661.3(AICDA): c.585T> C (p.Thr195=) single nucleotide variant Benign rs78590060 GRCh38 Chromosome 12, 8604296: 8604296
42 AICDA NM_020661.3(AICDA): c.322A> C (p.Ile108Leu) single nucleotide variant Uncertain significance rs368645130 GRCh37 Chromosome 12, 8757916: 8757916
43 AICDA NM_020661.3(AICDA): c.322A> C (p.Ile108Leu) single nucleotide variant Uncertain significance rs368645130 GRCh38 Chromosome 12, 8605320: 8605320
44 AICDA NM_020661.3(AICDA): c.74G> A (p.Arg25His) single nucleotide variant Benign rs61730095 GRCh38 Chromosome 12, 8606947: 8606947
45 AICDA NM_020661.3(AICDA): c.74G> A (p.Arg25His) single nucleotide variant Benign rs61730095 GRCh37 Chromosome 12, 8759543: 8759543
46 AICDA NM_020661.3(AICDA): c.557T> C (p.Val186Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 8604324: 8604324
47 AICDA NM_020661.3(AICDA): c.557T> C (p.Val186Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 8756920: 8756920
48 AICDA NM_020661.3(AICDA): c.305C> T (p.Pro102Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 8605337: 8605337
49 AICDA NM_020661.3(AICDA): c.305C> T (p.Pro102Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 8757933: 8757933
50 AICDA NM_020661.3(AICDA): c.160G> C (p.Gly54Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 8605482: 8605482

Expression for Immunodeficiency with Hyper-Igm, Type 2

Search GEO for disease gene expression data for Immunodeficiency with Hyper-Igm, Type 2.

Pathways for Immunodeficiency with Hyper-Igm, Type 2

Pathways related to Immunodeficiency with Hyper-Igm, Type 2 according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.07 CD2 CD40 CD40LG CXCL9 IKBKG TNFSF13B
2
Show member pathways
12.61 AICDA CD40 CD40LG CXCL9 ICOSLG IKBKG
3 12.21 AICDA BCL6 CD2 CD276 CD40LG IKBKG
4
Show member pathways
12.19 CD40 CD40LG ICOSLG IKBKG
5 11.81 CD2 CD276 CD40 CD40LG ICOSLG
6 11.68 CD40 CD40LG IKBKG TNFSF13B
7
Show member pathways
11.53 CD40 CD40LG IKBKG TNFSF13B
8 11.45 AICDA BCL6 CD40LG
9 11.33 BCL6 CD40 CD40LG
10 11.12 CD2 CD276 CD40 CD40LG ICOSLG
11 10.99 CD2 CD40LG CXCL9 TNFSF13B
12 10.59 AICDA CD40 CD40LG IKBKG UNG
13 10.45 CD40 IKBKG

GO Terms for Immunodeficiency with Hyper-Igm, Type 2

Cellular components related to Immunodeficiency with Hyper-Igm, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear heterochromatin GO:0005720 9.26 KMT5C UHRF1
2 external side of plasma membrane GO:0009897 9.17 CD2 CD276 CD40 CD40LG CXCL9 ICOSLG
3 condensed nuclear chromosome, centromeric region GO:0000780 9.16 KMT5B KMT5C
4 replication fork GO:0005657 9.13 BCL6 TP53BP1 UHRF1

Biological processes related to Immunodeficiency with Hyper-Igm, Type 2 according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.97 CD276 CD40LG CXCL9 IKBKG TNFSF13B
2 chromatin organization GO:0006325 9.93 BRD4 KMT5B KMT5C UHRF1
3 inflammatory response GO:0006954 9.88 BCL6 CD40 CD40LG CXCL9 IKBKG
4 defense response to virus GO:0051607 9.83 AICDA APOBEC1 CD40 CXCL9
5 B cell differentiation GO:0030183 9.74 AICDA BCL6 CD40LG
6 tumor necrosis factor-mediated signaling pathway GO:0033209 9.72 CD40 CD40LG TNFSF13B
7 positive regulation of T cell proliferation GO:0042102 9.71 CD276 CD40LG TNFSF13B
8 T cell costimulation GO:0031295 9.67 CD40LG ICOSLG TNFSF13B
9 positive regulation of interleukin-12 production GO:0032735 9.63 CD40 CD40LG
10 T cell activation GO:0042110 9.63 CD2 CD276 ICOSLG
11 cellular response to DNA damage stimulus GO:0006974 9.63 BCL6 BRD4 IKBKG TP53BP1 UHRF1 UNG
12 positive regulation of endothelial cell apoptotic process GO:2000353 9.62 CD40 CD40LG
13 histone methylation GO:0016571 9.62 KMT5B KMT5C
14 T cell receptor signaling pathway GO:0050852 9.62 CD276 ICOSLG IKBKG MOG
15 DNA demethylation GO:0080111 9.61 AICDA APOBEC1
16 somatic hypermutation of immunoglobulin genes GO:0016446 9.61 AICDA UNG
17 isotype switching GO:0045190 9.6 AICDA CD40LG
18 cytidine to uridine editing GO:0016554 9.59 AICDA APOBEC1
19 positive regulation of isotype switching GO:0045830 9.58 TP53BP1 UNG
20 DNA cytosine deamination GO:0070383 9.56 AICDA APOBEC1
21 positive regulation of B cell proliferation GO:0030890 9.54 BCL6 CD40 TNFSF13B
22 histone H4-K20 trimethylation GO:0034773 9.51 KMT5B KMT5C
23 regulation of immunoglobulin secretion GO:0051023 9.43 CD40 CD40LG
24 immunoglobulin secretion GO:0048305 9.4 CD40LG TNFSF13B
25 negative regulation of methylation-dependent chromatin silencing GO:0090310 9.26 AICDA APOBEC1
26 regulation of immune response GO:0050776 9.17 BCL6 CD276 CD40 CD40LG ICOSLG MOG
27 cytidine deamination GO:0009972 9.13 AICDA APOBEC1 CDA

Molecular functions related to Immunodeficiency with Hyper-Igm, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.8 AICDA BCL6 CDA ICOSLG IKBKG UHRF1
2 signaling receptor binding GO:0005102 9.55 CD2 CD276 ICOSLG MOG TNFSF13B
3 histone methyltransferase activity (H4-K20 specific) GO:0042799 8.96 KMT5B KMT5C
4 cytidine deaminase activity GO:0004126 8.8 AICDA APOBEC1 CDA
5 protein binding GO:0005515 10.19 AICDA APOBEC1 BCL6 BRD4 CD2 CD276

Sources for Immunodeficiency with Hyper-Igm, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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39 LifeMap
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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